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PMID: 21990126 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Curating gene variant databases (LSDBs): toward a universal standard.

Human mutation ·Vol. 33 ·No. 2 ·2012-02-00 ·Pages 291-7

Celli J, Dalgleish R, Vihinen M, Taschner PE, den Dunnen JT

Abstract

Gene variant databases or Locus-Specific DataBases (LSDBs) are used to collect and display information on sequence variants on a gene-by-gene basis. Their most frequent use is in relation to DNA-based diagnostics, giving clinicians and scientists easy access to an up-to-date overview of all gene variants identified worldwide and whether they influence the function of the gene ("pathogenic or not"). While literature on gene variant databases is extensive, little has been published on the process of database curation itself. Based on our extensive experience as LSDB curators and our contributions to database curation courses, we discuss the subject of database curation. We describe the tasks involved, the steps to take, and the issues that might occur. Our overview is a first step toward establishing overall guidelines for database curation and ultimately covers one aspect of establishing quality-assured gene variant databases.

MeSH Terms
Computational Biology/methods,standards Databases, Genetic/standards Genes Genetic Variation Humans Internet Software
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Celli Jacopo
Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Dalgleish Raymond
Vihinen Mauno
Taschner Peter E M
den Dunnen Johan T
Article Info
Journal
Human mutation
Abbr.
Hum Mutat
ISSN
1098-1004
Published
2012-02-00
Epub
2011-00-03
Pages
291-7
Language
English
Region
United States
NLM ID
9215429
Subset
IM
Analysis Services
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